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rs121918718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918718(A;A)
Make rs121918718(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24261778
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918718
ebirs121918718
HLIrs121918718
Exacrs121918718
Varsomers121918718
Maprs121918718
PheGenIrs121918718
hapmaprs121918718
1000 genomesrs121918718
hgdprs121918718
ensemblrs121918718
gopubmedrs121918718
geneviewrs121918718
scholarrs121918718
googlers121918718
pharmgkbrs121918718
gwascentralrs121918718
openSNPrs121918718
23andMers121918718
23andMe allrs121918718
SNP Nexus

SNPshotrs121918718
SNPdbers121918718
MSV3drs121918718
GWAS Ctlgrs121918718
Max Magnitude0
OMIM190195
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918718(A;A)
Alt rs121918718(A;A)
Reference rs121918718(G;G)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 1
HGVS NC_000014.8:g.24730984C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013304.23,